Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.; Ryan, Monique M.; O'Grady, Gina L.; Sandaradura, Sarah A.; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L.; Nolan, Melinda A.; Kaur, Simranpreet; Punetha, Jaya; Töpf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A.; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R.; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E.; Foley, A. Reghan; Bharucha‐Goebel, Diana; Collins, James; Connolly, Anne M.; Gilbreath, Heather R.; Iannaccone, Susan T.; Castro, Diana; Cummings, Beryl B.; Webster, Richard I.; Lazaro, Leïla; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho‐Ming; Thomas, Neil H.; Foulds, Nicola C.; Illingworth, Marjorie A.; Ellard, Sian; McLean, Catriona A.; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra T.; Kamsteeg, Erik‐Jan; Hoffman, Eric P.; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn N.; Clarke, Nigel F.; Lek, Monkol; Beggs, Alan H.; Bönnemann, Carsten G.; MacArthur, Daniel G.; Granzier, Henk; Davis, Mark R.; Laing, Nigel G.

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John E. 3rd Smith
Oates et al., 2018

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Wiley, Annals of Neurology, 6(83), p. 1105-1124

DOI: 10.1002/ana.25241

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@article{Oates2018,
  author = {Oates, Emily C. and Jones, Kristi J. and Donkervoort, Sandra and Charlton, Amanda and Brammah, Susan and Smith, John E. and Ware, James S. and Yau, Kyle S. and Swanson, Lindsay C. and Whiffin, Nicola and Peduto, Anthony J. and Bournazos, Adam and Waddell, Leigh B. and Farrar, Michelle A. and Sampaio, Hugo A. and Teoh, Hooi Ling and Lamont, Phillipa J. and Mowat, David and Fitzsimons, Robin B. and Corbett, Alastair J. and Ryan, Monique M. and O'Grady, Gina L. and Sandaradura, Sarah A. and Ghaoui, Roula and Joshi, Himanshu and Marshall, Jamie L. and Nolan, Melinda A. and Kaur, Simranpreet and Punetha, Jaya and Töpf, Ana and Harris, Elizabeth and Bakshi, Madhura and Genetti, Casie A. and Marttila, Minttu and Werlauff, Ulla and Streichenberger, Nathalie and Pestronk, Alan and Mazanti, Ingrid and Pinner, Jason R. and Vuillerot, Carole and Grosmann, Carla and Camacho, Ana and Mohassel, Payam and Leach, Meganne E. and Foley, A. Reghan and Bharucha‐Goebel, Diana and Collins, James and Connolly, Anne M. and Gilbreath, Heather R. and Iannaccone, Susan T. and Castro, Diana and Cummings, Beryl B. and Webster, Richard I. and Lazaro, Leïla and Vissing, John and Coppens, Sandra and Deconinck, Nicolas and Luk, Ho‐Ming and Thomas, Neil H. and Foulds, Nicola C. and Illingworth, Marjorie A. and Ellard, Sian and McLean, Catriona A. and Phadke, Rahul and Ravenscroft, Gianina and Witting, Nanna and Hackman, Peter and Richard, Isabelle and Cooper, Sandra T. and Kamsteeg, Erik‐Jan and Hoffman, Eric P. and Bushby, Kate and Straub, Volker and Udd, Bjarne and Ferreiro, Ana and North, Kathryn N. and Clarke, Nigel F. and Lek, Monkol and Beggs, Alan H. and Bönnemann, Carsten G. and MacArthur, Daniel G. and Granzier, Henk and Davis, Mark R. and Laing, Nigel G.},
  doi = {10.1002/ana.25241},
  journal = {Annals of Neurology},
  month = {jun},
  pages = {1105-1124},
  title = {Congenital Titinopathy: Comprehensive characterization and pathogenic insights},
  url = {https://oadoi.org/10.1002/ana.25241},
  volume = {83},
  year = {2018}
}

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